NEI DNA Diagnostic Laboratory Operation Preparation for CLIA renewal inspection: The NEI DNA Diagnostic Laboratory has the CLIA license to conduct the clinical molecular testing. This license will be expired in November, 2011 and subject to be renewed. There will be an inspection by CMS CLIA office in order to certify a new license to the lab. To prepare for the license renew and inspection, lab has been reviewing the compliance to CLIA regulations. The lab has re-organized the documents, re-written the QA protocols, and performed necessary remedial actions. The lab has been inspected by NIH CLIA resources center in September 1, 2011. The lab is reviewing the protocols and documentations according to the recommendations from NIH CLIA officers. We are developing an autosomal STR markers panel to facilitate identity analysis for each sample that eyeGENE will receive as a QA procedure. In the combination with earlier developed X chromosome STR assays and three additional autosomal chromosome STR markers assay for identity analysis, we are able to determine identity among thousands of samples. NEI DNA lab identified several incidents involving both eyeGENE samples and NEI DNA lab samples. To facilitate the investigation for the incidents, the lab continues to work on quality assessments and quality improvement by developing standard protocols, providing continuous personnel training, and providing correction actions. The lab commits to zero tolerance for any sample processing uncertainty and will conduct very thorough investigation for every incident and replace every sample in question. Inventory of DNA Diagnostic Labortory storage: The DNA diagnostic lab has a second sample banking storage other than the eyeGENE repository. Because of two rounds of complete lab personnel turnovers, DNA lab second storage was not documented well for laboratory storage and clinical information. Therefore, the lab decided to perform inventory and reorganization. With the help of a summer student, we completed the inventory and we are building a tracking system for sample storage and operational pending log. To increase the capacity of eyeGENE operation to fit increased recruitment of patients: The DNA lab has recruited additional testing personnel to meet the increased demanding of sample flow. Last year, DNA lab was awarded for a fund to purchase an automated DNA extraction machine, Autopure LS, which is capable to extract DNA from 10 ml blood per sample. After thorough evaluation and validation, the lab is implementing the Autopure LS by standardized protocol and personnel training. To develop new testing protocol to better serve the NEI Eye Clinic, external collaborators of NEI Eye Clinic and intramural NEI research community: After re-validation of RS1 gene testing for the X-linked Juvenile Retinoschisis in 2009, the lab has re-validated CYP4V2 gene tests for Bietti Crystalline Corneoretinal Dystrophy in 2010 and NYX gene test for the Congenital Stationary Night Blindness in 2011. Meanwhile, the lab has developed new tests for TYR gene mutation screening for OCA1 and GUCY2D target mutation analysis for CRD. Re-validation of CHM gene test for Choroideremia is in progress. To develop new clinical protocol for the NEI Biobank project: NEI Clinics has proposed a Biobank for patients with eye diseases. As part of this biobank, NEI DNA lab has been developing protocol to storage blood and extracts DNA for research and clinical tests. We are ready to start the protocol once the protocol has been approved by IRB. To continue the service of genetic testing for NEI eye clinic for standard care of patients and for eyeGENE operation: NEI eyeGENE core lab continues the samples collection. The eyeGENE repository has reached its 3000 sample milestone in this month. NEI DNA diagnostic lab offers RS1, CYP4V2, NYX, and GUCY2D, and TYR five clinical tests. NEI DNA lab completed 46 RS1 tests and 12 CYP4V2 tests in 2010. Also, NEI DNA lab had developed internal identity analysis to eyeGENE samples to conduct quality control function. It includes fragment analysis of nine STR markers and Amelogenin gene assay for gender analysis.